Tuberous sclerosis complex–associated kidney disease in children

TL;DR

This paper reviews the management of kidney disease in children with Tuberous Sclerosis Complex, focusing on clinical guidelines and challenging cases.

Contribution

The paper provides an educational summary of updated 2024 guidelines for managing TSC-associated kidney disease in children.

Findings

Children with TSC commonly develop kidney lesions like angiomyolipomata and cysts.

Hypertension is a common issue in TSC-associated kidney disease, with rare cases of reduced kidney function.

The paper discusses management strategies for complex cases like TSC2-PKD1 contiguous gene syndrome.

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder which can have manifestations in the kidneys, along with other organ systems. Children with TSC may develop kidney lesions at any point during childhood, and typically these are angiomyolipomata (AML) and/or kidney cysts. Children may also have hypertension associated with TSC-associated kidney disease, and rarely reduced kidney function. New guidelines for the management of TSC-associated kidney disease in children and adults were published in 2024. This educational review summarises the relevant clinical aspects of these guidelines for paediatric nephrologists through a series of four clinical cases. These cases cover management of hypertension, frequency of follow-up and frequency of kidney imaging. Difficult clinical scenarios are reviewed, such as the management of TSC2-PKD1 contiguous gene syndrome and the management of large AMLs in children with TSC.

A higher resolution version of the Graphical abstract is available as Supplementary information

A higher resolution version of the Graphical abstract is available as Supplementary information

The online version contains supplementary material available at 10.1007/s00467-024-06642-9.

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